Torch Syndrome malady

MalaCards: Torch Syndrome is related to aicardi-goutieres syndrome and intrauterine infections. An important gene associated with Torch Syndrome is OCLN (occludin), and among its related pathways are Cell adhesion_Tight junctions and Leukocyte transendothelial migration. The compounds uridine and pseudouridine have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and tumorigenesis.

torch syndrome 30 43

Diseases related to torch syndrome by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	aicardi-goutieres syndrome	30.9	OCLN, DKC1, JAM3
2	intrauterine infections	28.3	DKC1, TERC
3	dyskeratosis congenita autosomal dominant	12.5	DKC1, TERC
4	dyskeratosis congenita	12.5	TERC, DKC1
5	dyskeratosis	12.4	TERC, DKC1
6	renal agenesis	12.3	DKC1, TERC
7	microcephaly	12.3	DKC1, OCLN
8	leukoplakia	12.2	TERC, DKC1
9	aplastic anemia	12.0	TERC, DKC1

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to torch syndrome:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	8.6	JAM3, TERC, OCLN
2	tumorigenesis	MP:0002006	8.5	JAM3, TERC, DKC1
3	respiratory system phenotype	MP:0005388	8.4	JAM3, TERC, DKC1
4	digestive/alimentary phenotype	MP:0005381	8.3	OCLN, TERC, JAM3
5	reproductive system phenotype	MP:0005389	8.1	DKC1, JAM3, TERC, OCLN
6	immune system phenotype	MP:0005387	8.1	TERC, JAM3, OCLN, DKC1

Articles related to torch syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). (12833411)	Knoblauch H.... Tinschert S.	2003	DKC1, TERC

Genes related to torch syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	OCLN	occludin	11.1	Summaries
2	DKC1	dyskeratosis congenita 1, dyskerin	11.0	Publications
3	JAM3	junctional adhesion molecule 3	11.0
4	TERC	telomerase RNA component	11.0	Publications

Pathways related to torch syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Cell adhesion_Tight junctions41	9.2	OCLN, JAM3
2	Leukocyte transendothelial migration20	9.2	JAM3, OCLN
3	Tight junction20	9.1	JAM3, OCLN
4	Epithelial Tight Junctions36	9.1	OCLN, JAM3
5	Cell adhesion molecules (CAMs)20	9.0	OCLN, JAM3
6	Sertoli-Sertoli Cell Junction Dynamics36	8.8	JAM3, OCLN

Compounds related to torch syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	uridine32 9 18 9	12.3	TERC, DKC1
2	pseudouridine32 18	10.2	TERC, DKC1
3	rrna32	9.0	TERC, DKC1

Cellular components related to torch syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	tight junction	GO:005923	9.1	JAM3, OCLN